부산대학교 도서관

Yılmaz Yıldız; Oya Kuseyri Hübschmann; Ayça Akgöz Karaosmanoğlu; Filippo Manti; Meryem Karaca; Ida Vanessa D. Schwartz; Roser Pons; Eduardo López‐Laso; Natalia Alexandra Julia Palacios; Francesco Porta; Ivana Kavecan; Mehmet Cihan Balcı; Marisela E. Dy‐Hollins; Suet‐Na Wong; Mari Oppebøen; Leonardo Simão Medeiros; Leila Cristina Pedroso de Paula; Angeles García‐Cazorla; Georg F. Hoffmann; Kathrin Jeltsch; Vincenzo Leuzzi; Gülden Gökçay; Daniel Hübschmann; Inga Harting; Z. Alev Özön; Serap Sivri; Thomas Opladen

Journal of Inherited Metabolic Disease. 47:431-446

Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing

Digital.CSIC. Repositorio Institucional del CSIC
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Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Consejo Superior de Investigaciones Científicas (CSIC)

Oya Kuseyri Hübschmann; Gabriella Horvath; Elisenda Cortès-Saladelafont; Yılmaz Yıldız; Mario Mastrangelo; Roser Pons; Jennifer Friedman; Saadet Mercimek-Andrews; Suet-Na Wong; Toni S. Pearson; Dimitrios I. Zafeiriou; Jan Kulhánek; Manju A. Kurian; Eduardo López-Laso; Mari Oppebøen; Sebile Kılavuz; Tessa Wassenberg; Helly Goez; Sabine Scholl-Bürgi; Francesco Porta; Tomáš Honzík; René Santer; Alberto Burlina; H. Serap Sivri; Vincenzo Leuzzi; Georg F. Hoffmann; Kathrin Jeltsch; Daniel Hübschmann; Sven F. Garbade; Birgit Assmann; Cheuk-Wing Fung; Philipp Guder; Stacey Tay Kiat Hong; Daniela Karall; Mitsuhiro Kato; Ivana Kavecan; Jeanette Aimee Koht; Alice Kuster; Thomas Lücke; Filippo Manti; Pablo Mir; Chris Mühlhausen; Halise Neslihan Önenli Mungan; Natalia Alexandra Julia Palacios; Joaquín Alejandro Fernández Ramos; Dora Steel; Galina Stevanović; Jolanta Sykut-Cegielska; Marcel M. Verbeek; Angeles García-Cazorla; Thomas Opladen

Nat Commun
NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Nature Communications
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Fundació Sant Joan de Déu
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12, 1

Paredes-Fuentes AJ; Julià-Palacios NA; Montero-Sanchez R; Yubero-Siles D; Cascajo-Almenara MV; Garcia-Cazorla A; Santos-Ocaña C; Artuch-Iriberri R

Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
CLINICAL CHEMISTRY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Fabra MA; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Paredes-Fuentes AJ; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Torralba Carnerero M; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Moreno Férnandez de Ayala DJ; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Arroyo Luque A; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Sánchez Cuesta A; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Staiano C; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Sanchez-Pintos P; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital de Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.; GCV14/ER/5 CIBERER, Instituto de Salud Carlos III, Santiago de Compostela, Spain.; Luz Couce M; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital de Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.; GCV14/ER/5 CIBERER, Instituto de Salud Carlos III, Santiago de Compostela, Spain.; Tomás M; Hospital Universitari i Politècnic La Fe, Servicio de Neuropediatría, Valencia, Spain.; Marco-Hernández AV; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Orellana C; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Martínez F; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Roselló M; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Caro A; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Oltra Soler JS; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Monfort S; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Sánchez A; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Rausell D; Hospital Universitari i Politècnic La Fe, Servicio de Análisis Clínicos, Valencia, Spain.; Vitoria I; Hospital Universitari i Politècnic La Fe, Unidad de Metabolopatías, Valencia, Spain.; Del Toro M; Pediatric Neurology Unit, Hospital Universitari Vall d'Hebron, CIBERER, MetabERN, Barcelona, Spain.; Instituto de Salud Carlos III, Barcelona, Spain.; Garcia-Cazorla A; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Julia-Palacios NA; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Jou C; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Yubero D; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; López LC; Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica, Instituto de Biotecnología, Universidad de Granada, Granada, Spain.; Hernández Camacho JD; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; López Lluch G; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Ballesteros Simarro M; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Rodríguez Aguilera JC; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Calvo GB; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Cascajo Almenara MV; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Artuch R; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Santos-Ocaña C; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Julia-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Kuseyri Hübschmann O; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic, Spain.; Pons R; First Department of Pediatrics, Aghia Sofia Hospital, University of Athens, Athens, Greece.; Horvath G; Division of Biochemical Genetics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.; Lücke T; St. Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany.; Fung CW; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong.; Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong.; Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Rovira-Remisa MM; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Mercimek-Andrews S; The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, Faculty of Medicine and Dentistry, Women and Children's Health Research Institute, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada.; Assmann B; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Stevanović G; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia.; Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università degli Studi di Roma La Sapienza, Rome, Italy.; Brennenstuhl H; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Institute of Human Genetics, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Jung-Klawitter S; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Jeltsch K; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Garbade SF; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; García-Cazorla À; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Opladen T; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Keller, M; Brennenstuhl, H; Kuseyri Hübschmann, O; Manti, F; Julia Palacios, NA; Friedman, J; Yıldız, Y; Koht, JA; Wong, S-N; Zafeiriou, DI; López-Laso, E; Pons, R; Kulhánek, J; Jeltsch, K; Serrano-Lomelin, J; Garbade, SF; Opladen, T; Goez, H; International Working Group on Neurotransmitter related Disorder; Burlina, A; Cortès-Saladelafont, E; Fernández Ramos, JA; García-Cazorla, A; Hoffmann, GF; Kiat Hong, ST; Honzík, T; Kavecan, I; Kurian, MA; Leuzzi, V; Lücke, T; Manzoni, F; Mastrangelo, M; Mercimek-Andrews, S; Mir, P; Oppebøen, M; Pearson, TS; Sivri, HS; Steel, D; Stevanović, G; Fung, C-W

JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Lucas de Alencar Medeiros; Francarlos de Oliveira Souza; Francisco Tiago De Carvalho Neto; Antônio Heitor Andrade Batista; Victor Laurentino Macedo; David Moreira Sampaio; Gabriel Igor paiva Santana; Julia Palacio Magnago Riemma; Maria Helena Alves de Sá Bezerra Pinheiro; Erasmo Almeida Junior; Émerson de Oliveira Ferreira

Brazilian Journal of Implantology and Health Sciences. 7:950-961

Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Juliá-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Olivella M; Bioinformatics and Medical Statistics Group, Faculty of Science and Technology, Vic University-University of Central Catalonia, Barcelona, Spain.; Guder P; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zafeiriou DI; First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.; Horvath G; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Pearson TS; Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Kuster A; Department of Neurometabolism and Metabolic Disorders, University Hospital of Nantes, Nantes, France.; Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Germans Trias i Pujol Hospital, Badalona and Faculty of Medicine, Autonomous University of Barcelona, Barcelona, Spain.; Ibáñez S; Department of Pediatric Neurology, Virgen de la Arrixaca Hospital, Murcia, Spain.; García-Jiménez MC; Metabolic Diseases Unit, Miguel Servet University Hospital, Zaragoza, Spain.; Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Garbade SF; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; García-Cazorla Á; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Justel M; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Paediatrics, Complejo asistencial de Salamanca, Salamanca, Spain.; Jou C; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; Sariego-Jamardo A; Paediatric Neurology Unit, Hospital Universitario Marques de Valdecilla, Santander, Spain.; Juliá-Palacios NA; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Poch ML; Department of Paediatrics, Hospital San Pedro, Logrono, Spain.; Hedrera-Fernandez A; Paediatric Neurology Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.; Gomez-Martin H; Department of Paediatrics, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Dominguez-Carral J; Unit of Epilepsy, Sleep and Neurophysiology, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Muxart J; Department of Radiology, Hospital Sant Joan de Déu, Barcelona, Spain.; Hernández-Laín A; Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.; Vila-Bedmar S; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Zulaica M; Biodonostia, Neurosciences Area, Neuromuscular Diseases Laboratory, Hospital Universitario de Donostia, San Sebastian, Spain.; Cancho-Candela R; Paediatric Neurology Unit, Hospital Universitario Rio Hortega de Valladolid, Valladolid, Spain.; Castro MDC; Department of Paediatrics, Hospital Clinico Universitario de Valladolid, Valladolid, Spain.; de la Osa-Langreo A; Department of Paediatrics, Hospital Universitario Doctor Peset, Valencia, Spain.; Peña-Valenceja A; Department of Paediatrics, Hospital Rio Carrion, Palencia, Spain.; Marcos-Vadillo E; Department of Clinical Biochemistry, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.; Prieto-Matos P; Department of Paediatrics, Complejo asistencial de Salamanca, Salamanca, Spain.; Pascual-Pascual SI; La Paz University Hospital, Madrid, Spain.; López de Munain A; Biodonostia, Neurosciences Area, Neuromuscular Diseases Laboratory, Hospital Universitario de Donostia, San Sebastian, Spain.; Camacho A; Paediatric Neurology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.; Estevez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain.; Musokhranova U; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Olivella M; Biosciences Department, Faculty of Sciences, Technology and Engineering, Universitat de Vic-Universitat Central de Catalunya, Vic, Spain.; Oyarzábal A; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Jimenez-Mallebrera C; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetics, Microbiology and Statistics, University of Barcelona, Barcelona, Spain.; Domínguez-González C; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; García-Cazorla À; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain daniel.natera@sjd.es.; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

F Bossacoma Busquets; T Lozano Andreu; Na Julia Palacios; J Arrojo Suarez; A Comes Escoda; M Sánchez Celma; A Deya Martinez; L Alsina Manrique de Lara

Section 4: Clinical Pharmacy Services. :A115.2-A116

Monique Teixeira Costa; Patrícia Helena Ferreira Côrtes; Débora Doria Rigueiro; Giulia Almeida Sauandag; Maria Julia Palacios Santos; Mariana Homem de Mello Maciel Campilongo; Amanda Bertazzoli Diogo

Brazilian Journal of Health Review. 7:3007-3025

Bondarenko MS; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Neuropediatric Unit, Pediatric Department, Hospital Universitari Germans Trias I Pujol, Badalona, Spain.; Kuseyri Hübschmann O; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Pons R; First Department of Paediatrics, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Pearson TS; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Jeltsch K; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Badnjarevic I; Lil' Brave One (Hrabrisa)-Patient Organization for Rare Neurotransmitter Diseases, Novi Sad, Serbia.; Wassenberg T; Department of Pediatrics, Pediatric Neurology and Metabolic Unit, Research Group Vitality, Universitair Ziekenhuis Brussel, Brussels, Belgium.; Horvath G; Division of Biochemical Genetics, Vancouver General Hospital & BC Children's Hospital, Vancouver, British Columbia, Canada.; Stevanovic G; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-ICH; Department of Neurology, Great Ormond Street Hospital, London, UK.; Cortès-Saladelafont E; Pediatric Department, Son Llàtzer University Hospital, Palma (Mallorca), Spain.; Roubertie A; Neuropediatric Service, CHU Montpellier, Montpellier, France.; Leuzzi V; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.; Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, Verona University, Verona, Italy.; Mastrangelo M; Child Neurology and Psychiatry Unit, Department of Neuroscience/Mental Health, Policlinico Umberto I, Rome, Italy.; Assmann B; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Garcia-Cazorla A; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Opladen T; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE